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Author: Stephen S Rich

Rankings

  • All-time downloads: 45,334 (rank: 756 out of 365,449)
  • Categories:
    • developmental biology: 640 (rank: 4,153 (tie) out of 14,071)
    • epidemiology: 598 (rank: 2,577 (tie) out of 9,548)
    • genetics: 22,097 (rank: 296 out of 34,165)
    • genomics: 21,999 (rank: 351 out of 39,333)

Downloads per author, site-wide

Preprints

An open resource of structural variation for medical and population genetics

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Recovery of trait heritability from whole genome sequence data

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

genomics more details view paper
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Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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Fine-mapping identifies causal variants for RA and T1D in DNASE1L3, SIRPG, MEG3, TNFAIP3 and CD28/CTLA4 loci

genetics more details view paper
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Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

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Using genotype data to distinguish pleiotropy from heterogeneity: deciphering coheritability in autoimmune and neuropsychiatric diseases

genomics more details view paper
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Population sequencing data reveal a compendium of mutational processes in human germline

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Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

genetics more details view paper
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Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed

genetics more details view paper
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Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

genetics more details view paper
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The maternal-fetal interface of successful pregnancies and impact of fetal sex using single cell sequencing

developmental biology more details view paper
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Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

genomics more details view paper
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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

genomics more details view paper
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Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

genetics more details view paper
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Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

genomics more details view paper
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Meta-analysis of exome array data identifies six novel genetic loci for lung function

genetics more details view paper
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Genome-Wide Association Study Reveals Genetic Link Between Diarrhea-Associated Entamoeba histolytica Infection And Inflammatory Bowel Disease

genetics more details view paper
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Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

epidemiology more details view paper
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Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

genetics more details view paper
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Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

genetics more details view paper
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Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

epidemiology more details view paper
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Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

genetics more details view paper
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